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Genetic and Rare Diseases Information Center (GARD)

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Aniridia

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Overview


Aniridia is an eye disorder characterized by a complete or partial absence of the colored part of the eye (the iris). These iris abnormalities may cause the pupils to be abnormal or misshapen. Aniridia can cause reduction in the sharpness of vision (visual acuity) and increased sensitivity to light (photophobia).[1]  Aniridia may occur either as an isolated eye abnormality or as part of the Wilms tumor-aniridia-genital anomalies-retardation (WAGR) syndrome.[2]

People with aniridia can also have other eye problems including increased pressure in the eye (glaucoma), clouding of the lens of the eye (cataracts), or underdevelopment of the structures that carry information from the eyes to the brain (optic nerves).  Individuals with aniridia may also have involuntary eye movements (nystagmus) or underdevelopment of the region at the back of the eye responsible for sharp central vision (foveal hypoplasia). Many of these eye problems contribute to progressive vision loss in affected individuals. The severity of symptoms is typically the same in both eyes.  Rarely, people with aniridia have behavioral problems, developmental delay, and problems detecting odors.[1]

Aniridia may be caused by mutations in the PAX6 gene and is inherited in an autosomal dominant pattern.[1]


References

  1. National LIbrary of Medicine. Aniridia. Genetics Home Reference. http://ghr.nlm.nih.gov/condition/aniridia. Accessed March 30, 2011.
  2. Hingorani M, Moore A. Aniridia. GeneReviews. http://www.ncbi.nlm.nih.gov/books/NBK1360/. Accessed March 30, 2011.
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General Information

  • Genetics Home Reference (GHR) contains information on Aniridia. Click on the link to go to GHR and review the information.
  • Medscape Reference provides information on this topic. Click on the link to view this information. You may need to register to view the medical textbook, but registration is free.
  • The National Organization for Rare Disorders (NORD) is a federation of more than 130 nonprofit voluntary health organizations serving people with rare disorders. Click on the link to view information on this topic.
  • Orphanet is a European reference portal for information on rare diseases and orphan drugs.  Access to this database is free of charge.  Click on the link to read information on this topic.
  • PubMed is a searchable database of medical literature and lists journal articles that discuss Aniridia. Click on the link to view a sample search on this topic.
  • The The Online Mendelian Inheritance in Man (OMIM) database contains genetics resources that discuss Aniridia. Click on the link to go to OMIM and review these resources.